Sequence analysis of a novel HLA-DRB1 allele, DRB1 * 1212 / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the molecular genetics basis for HLA novel allele HLA-DRB1*1212 in Chinese population.</p><p><b>METHODS</b>Genomic DNA was extracted from whole blood by salting-out method. HLA-DRB1 gene exon 2 was amplified by PCR with group-specific primers from genomic DNA. PCR products were cut back from agarose gels and purified to sequence directly. The polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSO) was performed to confirm the mutations which were detected by sequencing in this study.</p><p><b>RESULTS</b>The sequencing results showed HLA-DRB1 alleles of the proband as DRB1*090102 and the novel allele. The sequences of the novel allele have been submitted to GenBank (AY899825). Through BLAST analysis, the novel allele was found to be different from DRB1*120101 at position 199A-->C in exon 2, that results in an amino acid change from Ile to Leu at codon 67.</p><p><b>CONCLUSION</b>This allele is a novel and has been officially named as DRB1*1212 by the WHO Nomenclature Committee.</p>